Trisomy of 13–15 Group in Patients With Generalized Congenital Analgesia

Congenital pain asymbolia and auditory imperception.

“…Becak, Becak, and Schmidt in 1963 reported two siblings with con-genital insensitivity to pain who had an unusual substance in their urine and mosaic trisomy for a chromosome in the D (13-15) group. Late development of speech and poor articulation have been described in association with indifference to pain in familial dysautonomia (Riley-Day syndrome), a disorder believed to be due to abnormal metabolism of pressor amine precursors (Riley, 1949;Riley, 1957;Dancis and Smith, 1966;Smithells, 1967).…”

In Vitro Uptake of Labelled Amino Acids by the Skin of Children with Generalized Congenital Analgesia

“…This condition, which is present at birth is characterized mainly by a total absence of pain responsiveness, although sensitivity to other stimuli, namely touch, thermal, pressure and proprioceptive, is apparently unimpaired. G C A is a hereditary condition with an autosomal inheritance pattern (13) involving a chromosome trisomy of group [13][14][15] (1,2). Previous investigations by some of the present authors in a small number of children with G C A failed to reveal the presence of either central or peripheral neurogical lesions, a finding in agreement with other reports (14), and demonstrated that polypeptides and other compounds related to the production of the sensation of pain (neurokinin, pain-producing substance PPS, serotonin, histamine) were present at normal concentrations (14,12).…”